Immunodeficiency 15 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: IMM063 MIFTS: 21	Immunodeficiency 15 Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases
Genes Variations Tissues Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Immunodeficiency 15

MalaCards integrated aliases for Immunodeficiency 15:

Name: Immunodeficiency 15 ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Imd15 ⁵⁷ ⁷⁵

Severe Combined Immunodeficiency Due to Ikk2 Deficiency ⁵⁹

Scid Due to Ikk2 Deficiency ⁵⁹

Immunodeficiency, Type 15 ⁴⁰

Characteristics:

Orphanet epidemiological data:

⁵⁹

severe combined immunodeficiency due to ikk2 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death without bone marrow transplantation
four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014)

HPO:

³²

immunodeficiency 15:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Combined immunodeficiencies

Severe combined immunodeficiency [SCID] with low or normal B-cell numbers

Orphanet: ⁵⁹

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 615592

Orphanet ⁵⁹ ORPHA397787

ICD10 via Orphanet ³⁴ D81.2

MedGen ⁴² C3810043 CN183073

MeSH ⁴⁴ D016511

SNOMED-CT via HPO ⁶⁹ 258211005 36440009 432788009 more

UMLS ⁷³ C3810043

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Summaries for Immunodeficiency 15

OMIM : ⁵⁷ Immunodeficiency-15 (IMD15) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by Pannicke et al., 2013). (615592)

MalaCards based summary : Immunodeficiency 15, is also known as imd15. An important gene associated with Immunodeficiency 15 is IKBKB (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta). Affiliated tissues include t cells, b cells and bone, and related phenotypes are failure to thrive and immunodeficiency

UniProtKB/Swiss-Prot : ⁷⁵ Immunodeficiency 15: An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells.

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Related Diseases for Immunodeficiency 15

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Symptoms & Phenotypes for Immunodeficiency 15

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Other:
failure to thrive

Immunology:
agammaglobulinemia
hypogammaglobulinemia
primary immunodeficiency
decreased numbers of nk cells
increased igm (1 patient)
more

Head And Neck Mouth:
candidiasis

Abdomen Gastrointestinal:
chronic diarrhea

Respiratory:
respiratory infections

Clinical features from OMIM:

615592

Human phenotypes related to Immunodeficiency 15:

³²

#	Description	HPO Source Accession
1	failure to thrive ³²	HP:0001508
2	immunodeficiency ³²	HP:0002721
3	chronic diarrhea ³²	HP:0002028
4	agammaglobulinemia ³²	HP:0004432
5	respiratory tract infection ³²	HP:0011947

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Drugs & Therapeutics for Immunodeficiency 15

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	OCT Study of the MGuard Prime Stent in Patients With Heart Attacks	Withdrawn	NCT02222116	Phase 4

Search NIH Clinical Center for Immunodeficiency 15

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Genetic Tests for Immunodeficiency 15

Genetic tests related to Immunodeficiency 15:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 15 ²⁹	IKBKB

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Anatomical Context for Immunodeficiency 15

MalaCards organs/tissues related to Immunodeficiency 15:

⁴¹

T Cells, B Cells, Bone, Heart, Bone Marrow, Nk Cells

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Publications for Immunodeficiency 15

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Genes for Immunodeficiency 15

Genes related to Immunodeficiency 15 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	1377.28	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24369075 10195897 25216719

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Variations for Immunodeficiency 15

ClinVar genetic disease variations for Immunodeficiency 15:

⁶

(show all 38)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	IKBKB	NM_001556.2(IKBKB): c.1292dupG (p.Gln432Profs)	duplication	Pathogenic	rs886041036	GRCh37	Chromosome 8, 42176121: 42176121
2	IKBKB	NM_001556.2(IKBKB): c.1292dupG (p.Gln432Profs)	duplication	Pathogenic	rs886041036	GRCh38	Chromosome 8, 42318603: 42318603
3	IKBKB	NM_001556.2(IKBKB): c.814C> T (p.Arg272Ter)	single nucleotide variant	Pathogenic	rs200296680	GRCh38	Chromosome 8, 42316223: 42316223
4	IKBKB	NM_001556.2(IKBKB): c.814C> T (p.Arg272Ter)	single nucleotide variant	Pathogenic	rs200296680	GRCh37	Chromosome 8, 42173741: 42173741
5	IKBKB	NM_001556.2(IKBKB): c.1577G> A (p.Arg526Gln)	single nucleotide variant	Benign	rs2272736	GRCh38	Chromosome 8, 42319645: 42319645
6	IKBKB	NM_001556.2(IKBKB): c.1577G> A (p.Arg526Gln)	single nucleotide variant	Benign	rs2272736	GRCh37	Chromosome 8, 42177163: 42177163
7	IKBKB	NM_001556.2(IKBKB): c.1083G> A (p.Leu361=)	single nucleotide variant	Benign	rs56230731	GRCh38	Chromosome 8, 42316862: 42316862
8	IKBKB	NM_001556.2(IKBKB): c.1083G> A (p.Leu361=)	single nucleotide variant	Benign	rs56230731	GRCh37	Chromosome 8, 42174380: 42174380
9	IKBKB	NM_001556.2(IKBKB): c.1119C> T (p.Asp373=)	single nucleotide variant	Benign	rs140666106	GRCh38	Chromosome 8, 42316898: 42316898
10	IKBKB	NM_001556.2(IKBKB): c.1119C> T (p.Asp373=)	single nucleotide variant	Benign	rs140666106	GRCh37	Chromosome 8, 42174416: 42174416
11	IKBKB	NM_001556.2(IKBKB): c.1702A> C (p.Arg568=)	single nucleotide variant	Benign	rs151057347	GRCh38	Chromosome 8, 42321909: 42321909
12	IKBKB	NM_001556.2(IKBKB): c.1702A> C (p.Arg568=)	single nucleotide variant	Benign	rs151057347	GRCh37	Chromosome 8, 42179427: 42179427
13	IKBKB	NM_001556.2(IKBKB): c.718G> A (p.Glu240Lys)	single nucleotide variant	Uncertain significance	rs201052871	GRCh38	Chromosome 8, 42314347: 42314347
14	IKBKB	NM_001556.2(IKBKB): c.718G> A (p.Glu240Lys)	single nucleotide variant	Uncertain significance	rs201052871	GRCh37	Chromosome 8, 42171865: 42171865
15	IKBKB	NM_001556.2(IKBKB): c.1062G> T (p.Leu354=)	single nucleotide variant	Likely benign	rs145086380	GRCh37	Chromosome 8, 42174359: 42174359
16	IKBKB	NM_001556.2(IKBKB): c.1062G> T (p.Leu354=)	single nucleotide variant	Likely benign	rs145086380	GRCh38	Chromosome 8, 42316841: 42316841
17	IKBKB	NM_001556.2(IKBKB): c.1338G> A (p.Arg446=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 8, 42318649: 42318649
18	IKBKB	NM_001556.2(IKBKB): c.1338G> A (p.Arg446=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 8, 42176167: 42176167
19	IKBKB	NM_001556.2(IKBKB): c.1504G> A (p.Glu502Lys)	single nucleotide variant	Benign	rs115698972	GRCh37	Chromosome 8, 42176927: 42176927
20	IKBKB	NM_001556.2(IKBKB): c.1504G> A (p.Glu502Lys)	single nucleotide variant	Benign	rs115698972	GRCh38	Chromosome 8, 42319409: 42319409
21	IKBKB	NM_001556.2(IKBKB): c.1606C> T (p.Arg536Trp)	single nucleotide variant	Benign	rs140485496	GRCh37	Chromosome 8, 42178280: 42178280
22	IKBKB	NM_001556.2(IKBKB): c.1606C> T (p.Arg536Trp)	single nucleotide variant	Benign	rs140485496	GRCh38	Chromosome 8, 42320762: 42320762
23	IKBKB	NM_001556.2(IKBKB): c.388+9C> T	single nucleotide variant	Likely benign	rs140937081	GRCh37	Chromosome 8, 42151039: 42151039
24	IKBKB	NM_001556.2(IKBKB): c.388+9C> T	single nucleotide variant	Likely benign	rs140937081	GRCh38	Chromosome 8, 42293521: 42293521
25	IKBKB	NM_001556.2(IKBKB): c.509C> T (p.Ala170Val)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 8, 42163892: 42163892
26	IKBKB	NM_001556.2(IKBKB): c.509C> T (p.Ala170Val)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 8, 42306374: 42306374
27	IKBKB	NM_001556.2(IKBKB): c.732T> C (p.Val244=)	single nucleotide variant	Benign	rs138978376	GRCh38	Chromosome 8, 42314361: 42314361
28	IKBKB	NM_001556.2(IKBKB): c.732T> C (p.Val244=)	single nucleotide variant	Benign	rs138978376	GRCh37	Chromosome 8, 42171879: 42171879
29	IKBKB	NM_001556.2(IKBKB): c.738C> T (p.Ser246=)	single nucleotide variant	Likely benign	rs151151310	GRCh38	Chromosome 8, 42314367: 42314367
30	IKBKB	NM_001556.2(IKBKB): c.738C> T (p.Ser246=)	single nucleotide variant	Likely benign	rs151151310	GRCh37	Chromosome 8, 42171885: 42171885
31	IKBKB	NM_001556.2(IKBKB): c.1390T> C (p.Cys464Arg)	single nucleotide variant	Uncertain significance	rs141839189	GRCh38	Chromosome 8, 42319295: 42319295
32	IKBKB	NM_001556.2(IKBKB): c.1390T> C (p.Cys464Arg)	single nucleotide variant	Uncertain significance	rs141839189	GRCh37	Chromosome 8, 42176813: 42176813
33	IKBKB	NM_001556.2(IKBKB): c.1669G> A (p.Gly557Arg)	single nucleotide variant	Uncertain significance	rs149701177	GRCh37	Chromosome 8, 42178343: 42178343
34	IKBKB	NM_001556.2(IKBKB): c.1669G> A (p.Gly557Arg)	single nucleotide variant	Uncertain significance	rs149701177	GRCh38	Chromosome 8, 42320825: 42320825
35	IKBKB	NM_001556.2(IKBKB): c.1126-4G> A	single nucleotide variant	Likely benign	rs201394549	GRCh37	Chromosome 8, 42175171: 42175171
36	IKBKB	NM_001556.2(IKBKB): c.1126-4G> A	single nucleotide variant	Likely benign	rs201394549	GRCh38	Chromosome 8, 42317653: 42317653
37	IKBKB	NM_001556.2(IKBKB): c.2228A> T (p.Gln743Leu)	single nucleotide variant	Uncertain significance	rs201869683	GRCh38	Chromosome 8, 42330936: 42330936
38	IKBKB	NM_001556.2(IKBKB): c.2228A> T (p.Gln743Leu)	single nucleotide variant	Uncertain significance	rs201869683	GRCh37	Chromosome 8, 42188454: 42188454

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Expression for Immunodeficiency 15

Search GEO for disease gene expression data for Immunodeficiency 15.

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Pathways for Immunodeficiency 15

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GO Terms for Immunodeficiency 15

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Sources for Immunodeficiency 15

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